Italian researchers who screened for alpha-1 antitrypsin deficiency (AATD) among adult patients with cystic fibrosis found that the condition does not have a higher prevalence among this group of patients compared to the general population, according to a study published in Biomedicines.

Both AATD and cystic fibrosis are among the 2 most common progressive genetic diseases in the Caucasian population. Both diseases share the phenotype of lung damage driven by neutrophil-mediated inflammation. When the 2 diseases coexist, lung damage occurs with greater speed and intensity. 

Existing studies have not looked into how this hypothetical contributor might affect disease severity in patients with cystic fibrosis in Southern Europe. The authors of this study hence set out to characterize the prevalence of AATD among adult patients with cystic fibrosis at a research center in Italy. 

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The researchers carried out their study at the Adult Cystic Fibrosis Center at the Policlinico University Hospital in Milan, Italy. They recruited adult patients with cystic fibrosis from January 2018 to March 2019. The research team excluded patients with an ongoing respiratory exacerbation based on evidence that suggests that the enzyme AAT increases during acute phases of infection. 

Participants of the study (n=173) were tested for their AAT serum protein levels, which was defined as low if levels fell beneath 60 mcg/dL. In addition, they underwent expanded genotyping characterization of SERPIN1, the results of which were compared to that of a control population of 2848 Caucasian individuals with the same demographics and geographical origin.

“This report demonstrates that AATD is not common among patients with [cystic fibrosis],” the authors of the study wrote. “Our results confirm a previous experiment from a cornerstone large multicenter study . . .  [that found that] most common AAT-deficient alleles had similar prevalence in both patients with [cystic fibrosis] and the general population.” 

However, considering that this study was conducted at a single treatment center in Italy, future studies may want to continue investigating the prevalence of AATD among Caucasian populations with cystic fibrosis in other locations. 


Amati F, Gramegna A, Contarini M, et al. Genetic and serum screening for alpha-1-antitrypsin deficiency in adult patients with cystic fibrosis: a single-center experience. Biomedicines. Published online December 14, 2022. doi:10.3390/biomedicines10123248